SLC2A10: Solute Carrier Family 2 Member 10
Glucose Transporter GLUT10 – Genetic Variants in Arterial Tortuosity Syndrome
Gene Information Card
| Symbol | SLC2A10 |
|---|---|
| Full Name | Solute Carrier Family 2 Member 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 81031 ncbi.nlm.nih.gov/gene/81031 |
| Ensembl ID | ENSG00000101236 |
| UniProt ID | O95528 |
| OMIM ID | 606145 |
| HGNC ID | 10978 |
| Aliases | GLUT10, ATS, GLUT-10 |
Description
SLC2A10 encodes GLUT10, a facilitative glucose transporter belonging to the solute carrier family 2. It mediates the transport of glucose and other hexoses across cell membranes. Mutations in SLC2A10 cause arterial tortuosity syndrome (ATS), a connective tissue disorder characterized by tortuosity and elongation of major arteries, aortic aneurysms, and skin laxity. The protein is localized to the plasma membrane and is highly expressed in vascular smooth muscle cells and fibroblasts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Arterial Tortuosity Syndrome (ATS) | Loss-of-function mutations impair glucose transport, leading to altered TGF-β signaling and connective tissue abnormalities. | OMIM #208050; multiple missense, nonsense, and frameshift variants reported. |
| Aortic Aneurysm | Disrupted GLUT10 function contributes to vascular wall fragility and aneurysm formation. | Case reports in ATS patients; ClinVar pathogenic variants. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Artery | 18.7 | Medium |
| Lung | 9.5 | Low |
| Liver | 6.2 | Low |
| Kidney | 8.1 | Low |
| Skin | 14.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Aortic smooth muscle cells | 15.2 | Primary cells |
| Fibroblasts | 11.8 | Primary cells |
| HUVEC | 7.4 | Endothelial cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1334G>A (p.Arg445Gln) | Missense | <0.01% | Reduced glucose transport activity |
| c.114delC (p.Thr39Leufs*12) | Frameshift | Rare | Loss of function; ATS-associated |
| c.901C>T (p.Arg301*) | Nonsense | Rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic SLC2A10 mutations result in loss of glucose transport activity, leading to ATS.
Gain of Function (GOF)
Not described for SLC2A10.
Dominant Negative (DN)
Not reported; ATS is inherited in an autosomal recessive manner.
View complete mutation data：
Gene Ontology (GO)
| • glucose transmembrane transporter activity (GO:0005355) | • transmembrane transport (GO:0055085) |
| • glucose transport (GO:0015758) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Glucose transport (Reactome: R-HSA-189200)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
GLUT10 (UniProt O95528) is a 541-amino acid facilitative glucose transporter with 12 transmembrane domains. It belongs to the major facilitator superfamily. The protein is N-glycosylated and localizes to the plasma membrane. It transports D-glucose and 2-deoxy-D-glucose with low affinity. Defects in GLUT10 disrupt cellular glucose homeostasis and are linked to arterial tortuosity syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC2A10 Knockout HEK293 Cell Line | EDJ-KQ2062 | Human | 81031 | Details Get a Quote |
| SLC2A10 Knockout HeLa Cell Line | EDJ-KQ57363 | Human | 81031 | Details Get a Quote |
| SLC2A10 Knockout A-549 Cell Line | EDJ-KQ65869 | Human | 81031 | Details Get a Quote |
| SLC2A10 Knockout HCT 116 Cell Line | EDJ-KQ74296 | Human | 81031 | Details Get a Quote |
